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ROSAH Syndrome: New genetic mutation discovery that can send a whole family blind

Professor Robyn Jamieson, a scientist and head of the Eye Genetics Unit at Westmed in Australia, discovered a very rare syndrome caused by a strange genetic mutation that can make a whole family blind.

The case of Beth White’s retinal disease in 2004 from Sydney has led Professor Jamieson into the ground-breaking discovery of a medical mystery.

How Was ROSAH Syndrome Discovered?

The gradual progression of vision loss and other symptoms of Mrs.

White’s eye disease was also shown in her three young children. Seemingly unrelated symptoms such as fever, abnormal spleen size, and headaches, started to develop in Mrs. White’s family for almost four years before the new genetic mutation discovery.

The unusual features of the condition made the researchers more interested to uncover the possible presence of a novel gene mutation.

The retinal dystrophy which she thought was her only problem turns out to be a greater medical condition that is putting her children at great risk.

Working with a handful of researchers around the world, the rare condition of Mrs. White and her three children was confirmed to be experienced in other families too.

The same genetic variant was present in four other families causing issues in the optic nerve. All the people identified in the research have severe impairment of vision.

It usually starts with a minor vision problem in their childhood and gradually their entire eyesight deteriorates as they age. Mrs. White began seeing symptoms when she was in her teens which has worsened over time.

“Living with a visual impairment, every day is hard work and I don’t want that for my kids,’’ Mrs. White said.

As parents, Mr. and Mrs. White are putting their hope in Professor Jamieson’s research for the treatment of their rare condition.

David White saw how his wife lost her “vision, mobility, and confidence” little by little as her condition worsens. “I’ve seen my wife go through that, and if I can avoid seeing my kids go through that, then I will,’’ Mr. White said.

What is ROSAH Syndrome?

Professor Jamieson and his team were determined to uncover the treatment by deliberately understanding the source of the syndrome. “It’s going to revolutionize the lives of so many people.

We don’t have a lot of time, the longer it takes, the less vision they’ll have to save.’’ Professor Jamieson said.

Using a genome and exome sequencing for charting the DNA coding of Mrs. White’s family and the other four families around the globe with the same condition, a series of tests were performed.

Using mice and human tissue in the lab, the ALPK1 gene was discovered to contain a variant that caused the condition and was named ROSAH syndrome. They ended up confirming the presence of the same variant in the same gene.

According to Professor Jamieson, blindness is a “pretty significant part” of ROSAH Syndrome.

It is named after its effect on the eyesight and other organs which are namely Retinopathy, Optic nerve edema, Splenomegaly, and Anhidrosis.

It damages the retina, causes swelling in the optic nerve, swelling of the spleen, disables a person to sweat normally, and makes a person experience migraine.

The lab experiments also reveal the complete expression of the mutated gene. It is involved in signaling pathways of cells which causes inflammation.

With its effects on the other organs of the body such as the spleen and the sweating process, it is also linked to gout and kidney disease as a variation of the gene expression.

Is There a Treatment for ROSAH Syndrome?

One possibility that the scientists are looking at is that this variant in the gene somehow interferes with the way cells duplicate and pass on their DNA coding.

Now the next big thing is the treatment of ROSAH syndrome.

Although it is still a long way to reach that, the discovery of the syndrome and its root cause brings hope to families who have endured years of perplexed doctors who see no association between the symptoms.

We see an opportunity of possible treatment, medication, or therapies as more investigation and research is being carried out by doctors and scientists at present.

“Every parent wants to give their kids every opportunity for a better life, and I can’t imagine the impact. Even if we could stabilize their vision, if they could hold on to what they have now, it would be a miracle.”, Mrs. White said.

“Hope is everything,” she adds, “knowing that there are people out there interested means the world to us.”

Professor Jamieson’s discovery has now been published in Genetics in Medicine, the American College of Medical Genetics and Genomics Journal.
(https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/Genetics_In_Medicine.aspx)